- A 10-year-old Caucasian female with Goltz syndrome (GS) was referred for management of ocular papillomas (Fig. 1A). She was born full-term with multiple congenital dysmorphisms, including syndactyly (Fig. 1B), ear anomalies, hearing loss, generalized vesicular rash, atrial septal defect, and developmental delay. GS was diagnosed clinically and confirmed genetically; parental genetic testing was negative. Surgical history included bilateral myringotomies, tonsillectomy and adenoidectomy for obstructive sleep apnea (OSA), right toe amputation, and multiple papilloma excisions (axilla, ears, and lips).
- The retinal astrocytic hamartoma is a hallmark ophthalmic feature of tuberous sclerosis complex (TSC).1 The typical course of such tumours is a relatively slow-growing nonaggressive lesion in the retina that can be managed expectantly.2 Nonetheless, there have been several reports in the literature of aggressive astrocytic hamartomas that do not demonstrate this benign course.3 We present here a rare case of an aggressive tumour in a patient with TSC that has cell types more typical of the subependymal giant cell astrocytoma (SEGA) that is seen in the brains of such patients.
- A 53-year-old previously healthy Caucasian male presented to an emergency department with fever, well-circumscribed tender erythematous nodules of the shins, bilateral plantar pain, and bilateral ankle swelling and pain of 1-week duration. He was discharged without a diagnosis and his symptoms began to spontaneously resolve over the next 3 days. A month later, he developed new diplopia, left lower eyelid swelling, and a palpable orbital lump.
- Multiple reports have suggested an association between vasculitis and hematologic malignancies, but most have involved small or medium-sized vasculitides.1,2 Concurrent malignancies have been shown to exist in 7.4% of patients with biopsy-proven giant cell arteritis (GCA), with 45% being hematologic in nature.3 Although GCA and chronic lymphocytic leukemia (CLL) have been shown to exist concurrently, rarely has the temporal artery biopsy (TAB) led to a simultaneous diagnosis of CLL.4–7 In this case study, we describe the unique finding of 2 simultaneous disease processes, GCA and CLL, on TAB.
- Amyloid fibril protein is a protein that is deposited as insoluble fibrils, mainly in extracellular spaces of organs and tissues as a resrult of a sequence of changes in protein folding.1 By definition, amyloid must exhibit both affinity for Congo red and green birefringence when samples that are stained with Congo red are viewed under polarized light.1 It can accumulate in all body tissues, including the brain, skin, respiratory tract, genitourinary tract, gastrointestinal tract, heart, spleen, soft tissues, and ocular and orbital tissues.
- A 60-year-old male patient was seen in a community hospital for an episode of amaurosis fugax in the left eye in August 2010. His erythrocyte sedimentation rate was 100 mm/hour with mild leukocytosis of 12.9 × 109/L, a platelet count of 307 × 109/L, and a positive C-reactive protein as indicated in the lab report. A tentative diagnosis of giant cell arteritis (GCA) was suspected, and he was started on oral prednisone at 50 mg/day. Subsequently, the patient was referred to our institution for a temporal artery biopsy (TAB) to confirm the diagnosis.
- Giant cell arteritis (GCA) is a potentially fatal medium- to large-vessel vasculitis with ocular and systemic involvement. The most common ocular manifestation is anterior arteritic ischemic optic neuropathy (AAION), which can be blinding and may affect 1 or both eyes. Systemically, aortitis is the most serious potential complication of GCA, as it can lead to aortic dissection and aortic aneurysms.1
- A previously healthy 4-month-old child presented with a right-sided medial canthal subcutaneous mass that was present for 2 weeks (Fig. 1). Parents stated it had been growing in size since it appeared, and there was tearing from this eye. Clinically, location and discolouration gave the appearance of a dacryocystocele; however, the lesion was firm and appeared adherent to the bone. The ocular examination was otherwise normal. Probing of the nasolacrimal duct showed free flow into the nose and did not decompress the lesion.
- Sebaceous cell carcinoma is a rare tumour that accounts for 1% to 5% of malignant eyelid tumours in white populations.1 However, in East and South Asian populations in which basal cell carcinoma is less frequent, sebaceous cell carcinoma is more frequent. A recent review of malignant eyelid tumours in Western Kowloon, Hong Kong, reported that 11.1% of their tumours were sebaceous cell carcinoma.2 It originates in meibomian glands and glands of Zeis.3 Most commonly found on the upper and lower eyelids, it can masquerade as chronic unilateral blepharitis, recurrent chalazia, basal cell carcinoma, or sebaceous cell carcinoma.